| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360948 |
| Start |
88126364:88126364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1303G>T |
| AA Mutation |
p.Ala435Ser(p.A435S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360948 |
| Start |
87940639:87940639(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1700T>C |
| AA Mutation |
p.Met567Thr(p.M567T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360948 |
| Start |
88256010:88256010(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.144G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |